Poster Details
Poster ID
P-58
Poster Title
GA4GH Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Authors
Clin/Pheno Co-leads: Mónica Muñoz Torres, Benjamin Berk
Product Leads: Peter Robinson, Julius Jacobsen, Grant Wood, Amy Foreman, and Carlos Cardenas-Iniguez
Work Stream Manager: Beatrice Amos
Abstract
Helps clinicians and researchers store, describe, and send data about observable traits (phenotypes) and clinical care.

Advances like electronic health records, deep phenotyping methods, and genetic testing offer the opportunity to build genomics into our digital health infrastructure. Patient care would improve if clinicians could quickly share genomic test results or link patient symptoms to genetic variants. The Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream accelerates the use of genomics in medicine by standardising how we describe clinical data, with a particular focus on observable traits (phenotypes) and family health history information. Clin/Pheno produces information models and standards that help clinicians and researchers capture, describe, and exchange clinical and phenotypic data.
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